Análise mutacional dos genes IRF6 e GRHL3 em indivíduos portadores de fissuras de lábio e/ou palato não sindrômicas
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Data
2016-10-26
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Universidade Federal de Goiás
Resumo
Cleft lip and / or palate are birth defects easily recognizable and widely incidents in the
human population. The clefts have a complex etiology involving genetic and
environmental factors. They are found in approximately 1 in 700 births and have
substantial impact on people's lives. Require always, surgery, dental, speech therapy,
psychological and cosmetic. Clefts are recognized as a result of a wide rate of
developmental disorders. Approximately 2/3 of the cases are not associated with any
other abnormality and are called "non syndromic." The etiology of non syndromic oral
clefts remains unknown. Preliminary studies suggest the involvement of a variety of
genes and / or loci and environmental factors seem to play an important role in the
genesis of such cases. Advances in molecular and quantitative analysis provide new
opportunities to identify genes and gene-environment interactions relevant to the
etiology of this common defect and representative birth. In this study, we analyzed a
set of 80 cases of cleft lip and / or palate of non syndromic cases of patients of
Associação de Combate as Deformidades Faciais (REFACE), collecting
epidemiological and clinical data and biological sample for DNA extraction. The
analysis was performed by Multiplex Ligation-dependent Probe Amplification (MLPA)
of IRF6 and GRHL3 genes. This study finds only one individual with a duplication of a
genomic region of the gene GRHL3, emphasizing the necessity of a larger sample and
different geographical regions.
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Palavras-chave
Fissura de lábio e/ou palato , Polimorfismo , GRHL3 , IRF6 , Malformação , MLPA , Cleft lip and/or palate , Polymorphism , IRF6 , GRHL3 , Malformation , MLPA
Citação
MARANHÃO, Betânia Severino da Silva. Análise mutacional dos genes IRF6 e GRHL3 em indivíduos portadores de fissuras de lábio e/ou palato não sindrômicas. 2016. 95 f. Dissertação (Mestrado em Biologia) - Universidade Federal de Goiás, Goiânia, 2016.